Canonical Allele Identifier: CA1425378

Gene: COQ8A

Linked Data

• ClinVar Variation Id: 2899785
• ClinVar RCV Id: RCV003739810
• dbSNP Id: rs202227926
• ExAC: 1:227171550 G / A
• gnomAD v2: 1-227171550-G-A
• gnomAD v3: 1-226983849-G-A
• gnomAD v4: 1-226983849-G-A
• MyVariant Identifiers: chr1:g.227171550G>A (hg19) ; chr1:g.226983849G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226983849G>A , CM000663.2:g.226983849G>A	GRCh38
NC_000001.10:g.227171550G>A , CM000663.1:g.227171550G>A	GRCh37
NC_000001.9:g.225238173G>A	NCBI36
NG_012825.1:g.48613G>A
NG_012825.2:g.91314G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366777.4:c.1251G>A MANE Select	ENSP00000355739.3:p.Lys417=
ENST00000366779.6:c.*5978G>A	ENSP00000355741.2:n.*5978G>A
ENST00000676884.1:c.*6100G>A	ENSP00000503200.1:n.*6100G>A
ENST00000366777.3:c.1251G>A	ENSP00000355739.3:p.Lys417=
ENST00000366778.5:c.1095G>A	ENSP00000355740.1:p.Lys365=
ENST00000366779.5:c.1251G>A	ENSP00000355741.1:p.Lys417=
ENST00000478406.5:n.1874G>A
ENST00000479852.1:n.199G>A
ENST00000485462.5:n.641G>A
NM_020247.4:c.1251G>A	NP_064632.2:p.Lys417=
XM_005273201.1:c.1251G>A	XP_005273258.1:p.Lys417=
XM_011544238.1:c.1251G>A	XP_011542540.1:p.Lys417=
XM_011544239.1:c.1251G>A	XP_011542541.1:p.Lys417=
XM_011544240.1:c.1251G>A	XP_011542542.1:p.Lys417=
XM_011544241.1:c.1251G>A	XP_011542543.1:p.Lys417=
XM_011544239.2:c.1251G>A	XP_011542541.1:p.Lys417=
XM_011544241.2:c.1251G>A	XP_011542543.1:p.Lys417=
XM_017001852.1:c.1251G>A	XP_016857341.1:p.Lys417=
XM_024448517.1:c.1251G>A	XP_024304285.1:p.Lys417=
XM_024448518.1:c.1251G>A	XP_024304286.1:p.Lys417=
NM_020247.5:c.1251G>A MANE Select	NP_064632.2:p.Lys417=